Pickering family raises awareness of rare lung disease

New data shows diagnosis takes an average of three years

Platnar family

Ryan Pfeiffer / Metroland

PICKERING -- A Pickering family is trying to raise awareness of pulmonary hypertension, a rare and potentially fatal lung disease. Isabelle Platnar, 8, was diagnosed with the disease at nine months old and needs to be on supplementary oxygen at all times. Recent data shows it takes three years for many people with this disease to be diagnosed. Isabelle sat with family members Isaac, Gabrielle and Sarah Platnar. May 12, 2014.

Platnar family

Ryan Pfeiffer / Metroland

PICKERING -- A Pickering family is trying to raise awareness of pulmonary hypertension, a rare and potentially fatal lung disease. Isabelle Platnar, 8, was diagnosed with the disease at nine months old and requires supplementary oxygen at all times. May 12, 2014.

PICKERING -- When Isabelle Platnar rides her bike, her mom has to run behind her with an oxygen tank.

The local eight-year-old has struggled with a rare lung disease since she was a baby and must been hooked up to supplemental oxygen 24/7.

"As a kid you want to be with your friends, running around in the school yard," says her mother, Sarah Platnar. "We try to keep life as normal as possible, but it's very challenging." Shortly after birth, Isabelle was diagnosed with a hole in her diaphragm. That led to a diagnosis of pulmonary hypertension, a potentially fatal lung disease.

"We never expected this ... it was the worst-case scenario," her mother says.

In patients with pulmonary hypertension, the arteries in the lungs become closed off or scarred, resulting in high blood pressure in the lungs.

An estimated 5,000 Canadians have been diagnosed with the disease, but experts think as many as 10,000 could be affected. There is no cure. Patients with the most severe form of pulmonary hypertension live an average of two to three years if left untreated.

The Platnar family wants to raise awareness of the disease and the need for early diagnosis.

A new Canadian survey shows the average time from first symptoms to diagnosis is three years -- way too long.

About half of patients surveyed said their family doctor did not initially recognize the symptoms and make a referral to a specialist.

“This is not a common disease; the average family physician or internist out there hasn’t seen it,” says Dr. Sanjay Mehta, who chairs the Pulmonary Hypertension Association of Canada’s board of directors.

He said members of the public are also largely unaware of it.

“When someone gets shortness of breath, which is the most common symptom, they don’t think this is the issue.”

The survey reveals patients suffer for years with breathlessness, tiredness and fatigue before seeking medical attention.

Ms. Platnar hopes for the day when better awareness and funding will lead to more research, more treatment options, and ultimately a cure.

Despite the challenges Isabelle faces, the local girl tries to live life to the fullest.

She is a Grade 3 student at St. Monica Catholic School in Pickering, loves to play the grand piano she received from the Children’s Wish Foundation and tries her hand at riding a bike, inline skating and whatever else her classmates and older siblings are up to.

But she struggles with fatigue every day.

“Things we can easily do are a challenge for her; it's like she's running a marathon all day long,” Isabelle’s mother says. “We think of every day as a gift ... but someday we hope for a better quality of life.”